Research Output per year
Personal profile
Research interests
Biogenesis of lysosomes.
Areas of Clinical Interest
Blood disorders, blood tissue disorders, hemostasis, thrombosis, molecular hematology, biosynthesis, biologic function of glycoproteins
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Research Output
Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention
Lee, W. S., Jennings, B. C., Doray, B. & Kornfeld, S., Jul 1 2020, In : Human mutation. 41, 7, p. 1321-1328 8 p.Research output: Contribution to journal › Article
A Lifetime of Adventures in Glycobiology
Kornfeld, S., Jun 20 2018, In : Annual review of biochemistry. 87, p. 1-21 21 p.Research output: Contribution to journal › Review article
6
Scopus
citations
Recycling of Golgi glycosyltransferases requires direct binding to coatomer
Liu, L., Doray, B. & Kornfeld, S., Sep 4 2018, In : Proceedings of the National Academy of Sciences of the United States of America. 115, 36, p. 8984-8989 6 p.Research output: Contribution to journal › Article
18
Scopus
citations
Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy
Liu, L., Lee, W. S., Doray, B. & Kornfeld, S., Jun 16 2017, In : Molecular Therapy - Methods and Clinical Development. 5, p. 59-65 7 p.Research output: Contribution to journal › Article
Open Access
7
Scopus
citations
Role of spacer-1 in the maturation and function of GlcNAc-1-phosphotransferase
Liu, L., Lee, W. S., Doray, B. & Kornfeld, S., Jan 1 2017, In : FEBS Letters. 591, 1, p. 47-55 9 p.Research output: Contribution to journal › Letter
Open Access
3
Scopus
citations